Craniofacial Syndromes

What is a Craniofacial Syndrome?

A craniofacial syndrome refers to an abnormality of the face and/or the head. Craniofacial differences can result from abnormal growth patterns of the face or skull, which involves soft tissue and bones. A craniofacial condition may include disfigurement brought about by birth defect, disease or trauma. Craniofacial syndromes vary considerably in type, level of severity, and physical symptoms. Syndromes always include a cluster of symptoms, most often affecting the form, function and appearance of the head, face and neck region. Differences may be found in other areas of the body as well.

Craniofacial syndromes may include various craniofacial conditions. A craniofacial condition may be part of a syndrome, or may occur separately from a syndrome. A syndrome is defined as a group of symptoms that occur together and characterize a particular abnormality. Various craniofacial syndromes evaluated and treated by the Ark-La-Tex Craniofacial and Cleft Center include:

Apert syndrome is a condition involving abnormal growth of the skull and the face due to early fusion of certain sutures of the skull. Children with Apert's have bulging eyes that are usually wide-set and tilted down at the sides. They usually have problems with teeth alignment due to the underdevelopment of the upper jaw. Some have cleft palate. Among other anomalies, children with Apert syndrome have webbed fingers and toes.

Carpenter Syndrome belongs to a group of rare genetic disorders known as acrocephalopolysyndactyly or ACPS disorders. All forms of ACPS are characterized by webbing or fusion (syndactyly) of certain fingers or toes (digits); and/or more than the normal number of digits (polydactyly), and by the premature closure of the fibrous joints (cranial sutures) between certain bones of the skull which is known as craniosynostosis, causing the top of the head to appear pointed, or cone shaped (acrocephaly).

Crouzon syndrome is a condition in which sutures in the head are prematurely fused resulting in abnormal growth of the skull and face. Children with Crouzon's have bulging eyes due to abnormal growth of the mid-face. They may have a receding upper jaw and protruding lower jaw. They may have problems with teeth due to abnormal jaw growth.

Fibrous Dysplasia is a condition of the skeleton (bones). It is a birth defect that is a non-cancerous disease. It is not hereditary so your child did not get it from you nor will he/she pass it along to his/her children. Fibrous Dysplasia gets progressively worse from birth until the bones finish growing. As it progresses, normal bone is replaced by various amounts of structurally weak fibrous and osseous (bone-like) tissue.

Frontonasal Dysplasia, also known as Median Cleft Face Syndrome, is a condition in which the nose has a flat, wide appearance, and the eyes may be wide-set. There is a groove of varying degrees, which runs down the middle of the face across the nose. In some cases the tip of the nose is missing. A gap with extra folds of skin covering it may appear on the front of the head.

Hemifacial Microsomia/Goldenhar Syndrome is a condition in which the lower half of one side of the face does not grow normally. The most obvious sign of this condition is a partially formed ear or total absence of an ear. Hemifacial microsomia can occur alone or with Goldenhar Syndrome.

Goldenhar Syndrome is a variant of hemifacial microsomia, with the additional presence of benign eyeball or eyelid tumors (epibulbar dermoids). Usually, Goldenhar syndrome affects one side of the face, but can affect both sides, usually impacting the right side more severely. Children with Goldenhar syndrome may also have neck problems, which are most commonly caused by a fusion or bony ridges between the bones of the neck.

Moebuis Syndrome is a rare congenital (present at birth) developmental disorder, characterized by absence or underdevelopment of the nerves that control facial (cranial nerve 7) and eye movements (cranial nerve 6). Most people with Moebius Syndrome have weakness or complete paralysis of the facial muscles. Children and adults with facial paralysis may be unable to smile, frown, raise their eyebrows, close their eyelids or pucker their lips. This not only results in lack of facial expression but may also result in drooling and difficulty with speech. Infants can have difficulty with sucking and swallowing.

Muenke syndrome is a condition characterized by the premature closure of certain bones of the skull (craniosynosotosis) during development, which affects the shape of the head and face. Many people with this disorder have a premature fusion of skull bones along the coronal suture, the growth line which goes over the head from ear to ear. Other parts of the skull may be malformed as well. These changes can result in an abnormally shaped head, wide-set eyes, and flattened cheekbones. About 5% of affected individuals have an enlarged head (macrocephaly). People with Muenke syndrome may also have mild abnormalities of the hands or feet, and hearing loss has been observed in some cases.

Nager Syndrome is a condition in which the facial characteristics include downward slanting eyelids, absence or underdeveloped cheekbones, a severely underdeveloped lower jaw, malformed outer and middle ears, clefting of the hard or soft palates, absence of lower eyelashes and scalp hair extending on the cheek. Upper limb defects include underdeveloped or missing thumbs and occasional absence of the radial limb.

Pfeiffer syndrome is a condition in which certain sutures are fused prematurely. There is a high forehead, and the top of the head may appear pointed. The middle face appears flattened, the nose is small and has a flattened appearance, eyes are widely spaced, and the upper jaw is underdeveloped, which causes the lower jaw to appear prominent. The thumbs and big toes have a broad appearance and teeth are often crowed.

Saethre-Chotzen syndrome is a condition in which more than one suture is fused prematurely causing irregular head growth. Eyelids are droopy while eyes are widespread and appear bulging and may be crossed. The upper jaw may be underdeveloped. The nose may appear "beaked" and the septum may be deviated; that is, the area between the nostrils is off center. Fingers are short and certain fingers may be fused. There may be a low hairline.

Treacher Collins is a condition in which the cheek-bones and jawbones are underdeveloped. Children with this condition have very small or partially absent cheek bones and notches in or stretching of the lower eyelids. The ears are frequently abnormal and part of the outer ear is usually absent. Hearing loss is also associated with this syndrome.